Canonical Allele Identifier: CA409468983
Gene: ATP5F1E HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.57605395C>A (hg19) chr20:g.59030340C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59030340C>A , CM000682.2:g.59030340C>A GRCh38
NC_000020.10:g.57605395C>A , CM000682.1:g.57605395C>A GRCh37
NC_000020.9:g.57038790C>A NCBI36
NG_031871.1:g.7028G>T
NG_031871.2:g.7028G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000243997.8:c.122G>T MANE Select ENSP00000243997.3:p.Ser41Ile
ENST00000243997.7:c.122G>T ENSP00000243997.3:p.Ser41Ile
ENST00000395659.1:c.122G>T ENSP00000379019.1:p.Ser41Ile
ENST00000395663.1:c.122G>T ENSP00000379023.1:p.Ser41Ile
NM_006886.3:c.122G>T NP_008817.1:p.Ser41Ile
NR_037929.1:n.826G>T
NR_037930.1:n.567G>T
NM_006886.4:c.122G>T MANE Select NP_008817.1:p.Ser41Ile
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